What is another word for Infantile Gaucher Disease?
Pronunciation: [ˈɪnfəntˌa͡ɪl ɡˈɔːt͡ʃə dɪzˈiːz] (IPA) 
Infantile Gaucher Disease, also known as Type 2 Gaucher Disease, is a rare genetic disorder characterized by a deficiency of an enzyme called glucocerebrosidase. This enzyme is responsible for breaking down a fatty substance called glucocerebroside in the body's cells. Without this enzyme, glucocerebroside accumulates in various organs, leading to severe health complications.
Synonyms for Infantile Gaucher Disease include Type 2 Gaucher Disease, Gaucher's Disease Type 2, and Gaucher's Type II. Furthermore, it is sometimes referred to as Severe Gaucher Disease or Acute Neuronopathic Gaucher Disease, indicating the profound neurological involvement associated with this form of Gaucher Disease.
Although these terms are interchangeable, they all describe the same devastating condition that affects young children. Early diagnosis and proper management are crucial in providing the best possible care for infants with this progressive and life-threatening disorder.
